A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694517



Internal ID15084483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53103618..53103914hg38UCSC Ensembl
Innerchr12:53497402..53497698hg19UCSC Ensembl
Innerchr12:51783669..51783965hg18UCSC Ensembl
Innerchr12:51783669..51783965hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38297
hg19297
hg18297
hg17297
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517066
Supporting Variants
Samples
Known GenesSOAT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694517
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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